Recommended guidelines to govern genetic testing in Europe

Jun 17 2004

Genetic testing may soon prove that prevention is better than cure. However, the emerging practice could have certain less desirable ethical and practical implications. To prevent these from occurring, an independent expert group drew up recommended guidelines to govern genetic testing in Europe.

A High Level Expert Group on genetic testing has released a set of 25 recommendations on getting the maximum benefits out of genetic testing – which can function as an early-warning system against certain types of hereditary diseases – for EU citizens. It made its recommendations during a two-day stakeholder conference on 6-7 May in Brussels entitled ‘Human genetic testing: what implications?’.

“Research has dramatically improved the early detection of illnesses. But European citizens rightly expect that the results of genetic tests are reliable and that their genetic information is used properly,” said Research Commissioner Philippe Busquin. “This new and powerful technology must be used in a responsible way and developed in a climate of confidence with the public at large.”

The decoding of the human genome – more colourfully known as the ‘book of life’ – was a major milestone in our understanding of the human body. With a complete map of our genes, we are gradually unlocking the secrets of our biological blueprint. Using this growing knowledge, we are increasingly able to detect genetic disorders when they occur and even predict disposition for certain diseases

As a recent EU study illustrates, the health benefits of genetic testing are reflected in the growing number of these examinations carried out in Europe each year – with an increase of as much as 100% annually in some Member States. More than 700 000 genetic tests, costing €500 million, are performed annually in the Union.

Prescribing the best medicine

The High Level Group’s recommendations revolve around a broad range of scientific, technical and, above all, ethical issues. For instance, since genetic testing can have potentially life-altering outcomes, the experts recommend the creation of a test validation system to ensure that only reliable tests are performed.

Quality assurance is another important area identified in the recommendations. This echoes an earlier report issued by the Commission’s Joint Research Centre (JRC) which recommends the establishment of common European quality standards.

One area of major public concern has been the issue of access to genetic data. While many people welcome the potential health benefits of genetic testing, the fear remains that the information could be used as a basis for social or economic discriminations.

Recognising such worries, the High Level Group set out a number of guidelines for the protection of genetic data, including ensuring that all test results are held in the strictest confidence and that no third parties are allowed access to them. The experts also stress that genetic tests should never be used to determine ethnicity.

A recent Commission-backed conference in Brussels delved into the risk of genetic testing being used to discriminate against people. Delegates agreed that EU regulations were needed to keep genetic testing exclusively in the medical domain and prevent insurers or employers from making them a requirement.

A European network for diagnostic testing of rare genetic diseases should be created as a matter of urgency, the group also urges.

“It is… important that the Expert Group’s recommendations are widely discussed and implemented by Member States and the medical and research communities through appropriate follow-up measures,” Mr Busquin concluded.